Program of Science, Technology and Society, Center for Research and Advanced Studies IPN (Cinvestav), 07360, Mexico City, Mexico.
Department of Legal, Ethical and Social Studies, National Institute of Genomic Medicine (Inmegen), 14610, Mexico City, Mexico.
BMC Med Ethics. 2021 Nov 23;22(1):156. doi: 10.1186/s12910-021-00720-5.
Genetic/genomic testing (GGT) are useful tools for improving health and preventing diseases. Still, since GGT deals with sensitive personal information that could significantly impact a patient's life or that of their family, it becomes imperative to consider Ethical, Legal and Social Implications (ELSI). Thus, ELSI studies aim to identify and address concerns raised by genomic research that could affect individuals, their family, and society. However, there are quantitative and qualitative discrepancies in the literature to describe the elements that provide content to the ELSI studies and such problems may result in patient misinformation and harmful choices.
We analyzed the major international documents published by international organizations to specify the parameters that define ELSI and the recognized criteria for GGT, which may prove useful for researchers, health professionals and policymakers. First, we defined the parameters of the ethical, legal and social fields in GGT to avoid ambiguities when using the acronym ELSI. Then, we selected nine documents from 44 relevant publications by international organizations related to genomic medicine.
We identified 29 ELSI sub-criteria concerning to GGT, which were organized and grouped within 10 minimum criteria: two from the ethical field, four from the legal field and four from the social field. An additional analysis of the number of appearances of these 29 sub-criteria in the analyzed documents allowed us to order them and to determine 7 priority criteria for starting to evaluate and propose national regulations for GGT.
We propose that the ELSI criteria identified herein could serve as a starting point to formulate national regulation on personalized genomic medicine, ensuring consistency with international bioethical requirements.
遗传/基因组测试（GGT）是改善健康和预防疾病的有用工具。然而，由于 GGT 涉及可能对患者及其家人的生活产生重大影响的敏感个人信息，因此必须考虑伦理、法律和社会影响（ELSI）。因此，ELSI 研究旨在识别和解决由基因组研究引发的问题，这些问题可能会影响个人、他们的家庭和社会。然而，文献中存在定量和定性差异，无法描述为 ELSI 研究提供内容的要素，这些问题可能导致患者信息错误和做出有害选择。
我们分析了国际组织发布的主要国际文件，以确定定义 GGT 中的 ELSI 的参数以及公认的 GGT 标准，这对于研究人员、卫生专业人员和政策制定者可能很有用。首先，我们定义了 GGT 中伦理、法律和社会领域的参数，以避免在使用 ELSI 缩写时产生歧义。然后，我们从与基因组医学相关的 44 篇国际组织相关出版物中选择了 9 篇文件。
我们确定了 29 个与 GGT 相关的 ELSI 子标准，这些子标准被组织并分为 10 个最低标准：两个来自伦理领域，四个来自法律领域，四个来自社会领域。对这些 29 个子标准在分析文件中的出现次数进行额外分析，使我们能够对它们进行排序，并确定 7 个优先标准，以便开始评估并为 GGT 提出国家法规。
我们建议本文确定的 ELSI 标准可以作为制定个性化基因组医学国家法规的起点，确保与国际生物伦理要求保持一致。
